Overview

  • Product name
    Recombinant Human FA2H protein
  • Protein length
    Full length protein

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLL RARAGQDISADLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVAL EETQKTDPAMEPRFKVVDWDKDLVDWRKPLLWQVGHLGEKYDEWVHQPVT RPIRLFHSDLIEGLSKTVWYSVPIIWVPLVLYLSWSYYRTFAQGNVRLFT SFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHMKPPSDSYYLI MLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGI STKLWDYCFHTLTPEKPHLKTQ
    • Amino acids
      1 to 372
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab163991 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • FA2H
    • FA2H_HUMAN
    • FAAH
    • FAH1
    • Fatty acid 2 hydroxylase
    • Fatty acid 2-hydroxylase
    • Fatty acid alpha hydroxylase
    • Fatty acid alpha-hydroxylase
    • Fatty acid hydroxylase domain containing 1
    • FAXDC1
    • FLJ25287
    • SCS7
    • Spastic paraplegia 35 (autosomal recessive)
    • SPG35
    see all
  • Function
    Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.
  • Tissue specificity
    Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney.
  • Involvement in disease
    Defects in FA2H are the cause of leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia (DLDSP) [MIM:612443]. The disorder consists of a progressive neurologic disease manifested by spasticity, disordered tonicity of muscle, and white matter degeneration.
    Defects in FA2H are a cause of spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.
  • Sequence similarities
    Belongs to the sterol desaturase family. SCS7 subfamily.
    Contains 1 cytochrome b5 heme-binding domain.
  • Domain
    The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Cellular localization
    Endoplasmic reticulum membrane. Microsome membrane.
  • Information by UniProt

Images

  • ab163991 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab163991 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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